{
    "disease_id": "DOID:0111025",
    "recommended_name": {
        "id": "DOID:0111025",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111025",
        "name": "cone-rod dystrophy 19",
        "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "DOID:0111025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111025",
            "name": "CORD19",
            "description": ""
        },
        {
            "id": "MONDO:0014372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014372",
            "name": "cone-rod dystrophy 19",
            "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene."
        },
        {
            "id": "MONDO:0014372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014372",
            "name": "CORD19",
            "description": ""
        },
        {
            "id": "MONDO:0014372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014372",
            "name": "TTLL5 cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014372",
            "name": "cone-rod dystrophy 19",
            "description": ""
        },
        {
            "id": "MONDO:0014372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014372",
            "name": "cone-rod dystrophy caused by mutation in TTLL5",
            "description": ""
        },
        {
            "id": "MONDO:0014372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014372",
            "name": "cone-rod dystrophy type 19",
            "description": ""
        },
        {
            "id": "MIM:615860",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615860",
            "name": "Cone-rod dystrophy 19",
            "description": "Cone-rod dystrophy 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111025"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111025",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111025",
            "categories": []
        },
        {
            "id": "MONDO:0014372",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014372",
            "categories": []
        },
        {
            "id": "MIM:615860",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615860",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7N1-1",
            "uniprot_ac": "A0ACD6B7N1",
            "uniprot_id": "A0ACD6B7N1_DANRE",
            "refseq_ac": "XP_017207366",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin--tyrosine ligase-like protein 5",
                    "type": "recommended"
                },
                {
                    "name": "tubulin polyglutamylase TTLL5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttll5",
                    "type": "recommended"
                },
                {
                    "name": "ttll5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7N1-1",
            "evidence": [
                {
                    "id": "0111025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CHB8-1",
            "uniprot_ac": "Q8CHB8",
            "uniprot_id": "TTLL5_MOUSE",
            "refseq_ac": "NP_001074892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin polyglutamylase TTLL5",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin--tyrosine ligase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "polyglutamylase",
                    "type": "synonym"
                },
                {
                    "name": "tubulin polyglutamylase TTLL5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin tyrosine ligase like family 5",
                    "type": "synonym"
                },
                {
                    "name": "tubulin--tyrosine ligase-like protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttll5",
                    "type": "recommended"
                },
                {
                    "name": "1700048H13Rik",
                    "type": "synonym"
                },
                {
                    "name": "2310009M18Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930556H18Rik",
                    "type": "synonym"
                },
                {
                    "name": "D630041K24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0998",
                    "type": "synonym"
                },
                {
                    "name": "Stamp",
                    "type": "synonym"
                },
                {
                    "name": "Ttll5",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0998",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHB8-1",
            "evidence": [
                {
                    "id": "0111025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6EMB2-1",
            "uniprot_ac": "Q6EMB2",
            "uniprot_id": "TTLL5_HUMAN",
            "refseq_ac": "NP_055887",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin polyglutamylase TTLL5",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "SRC1 and TIF2 associated binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SRC1 and TIF2-associated modulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "STAMP protein",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin--tyrosine ligase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "tubulin polyglutamylase TTLL5",
                    "type": "synonym"
                },
                {
                    "name": "tubulin tyrosine ligase-like family, member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTLL5",
                    "type": "recommended"
                },
                {
                    "name": "CORD19",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0998",
                    "type": "synonym"
                },
                {
                    "name": "STAMP",
                    "type": "synonym"
                },
                {
                    "name": "TTLL5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6EMB2-1",
            "evidence": [
                {
                    "id": "615860",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615860"
                },
                {
                    "id": "0111025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GJ32-1",
            "uniprot_ac": "A0A8I6GJ32",
            "uniprot_id": "A0A8I6GJ32_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin--tyrosine ligase-like protein 5",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttll5",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563583",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GJ32-1",
            "evidence": [
                {
                    "id": "0111025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBX5-1",
            "uniprot_ac": "Q9VBX5",
            "uniprot_id": "Q9VBX5_DROME",
            "refseq_ac": "NP_001287520",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin--tyrosine ligase-like protein 5",
                    "type": "recommended"
                },
                {
                    "name": "CG31108-PB",
                    "type": "synonym"
                },
                {
                    "name": "TTLL5-PB",
                    "type": "synonym"
                },
                {
                    "name": "tubulin tyrosine ligase-like 5, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTLL5",
                    "type": "recommended"
                },
                {
                    "name": "CG10057",
                    "type": "synonym"
                },
                {
                    "name": "CG31108",
                    "type": "synonym"
                },
                {
                    "name": "DmCG31108",
                    "type": "synonym"
                },
                {
                    "name": "DmTTLL5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31108",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31108",
                    "type": "synonym"
                },
                {
                    "name": "TTLL5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBX5-1",
            "evidence": [
                {
                    "id": "0111025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111025"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111025"
}